Large Scale Sequencing And Expression Approaches To Study Complex Diseases
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| Author | : William K. Scott |
| Publisher | : John Wiley & Sons |
| Total Pages | : 340 |
| Release | : 2021-12-06 |
| Genre | : Science |
| ISBN | : 1118123913 |
Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.
| Author | : United States. Congress. House. Committee on Science. Subcommittee on Energy and Environment |
| Publisher | : |
| Total Pages | : 788 |
| Release | : 2001 |
| Genre | : Science |
| ISBN | : |
| Author | : Yudong Cai |
| Publisher | : Frontiers Media SA |
| Total Pages | : 212 |
| Release | : 2021-06-11 |
| Genre | : Science |
| ISBN | : 2889668754 |
| Author | : National Academies of Sciences, Engineering, and Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 201 |
| Release | : 2020-12-18 |
| Genre | : Science |
| ISBN | : 0309676738 |
One of the holy grails in biology is the ability to predict functional characteristics from an organism's genetic sequence. Despite decades of research since the first sequencing of an organism in 1995, scientists still do not understand exactly how the information in genes is converted into an organism's phenotype, its physical characteristics. Functional genomics attempts to make use of the vast wealth of data from "-omics" screens and projects to describe gene and protein functions and interactions. A February 2020 workshop was held to determine research needs to advance the field of functional genomics over the next 10-20 years. Speakers and participants discussed goals, strategies, and technical needs to allow functional genomics to contribute to the advancement of basic knowledge and its applications that would benefit society. This publication summarizes the presentations and discussions from the workshop.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 128 |
| Release | : 1988-01-01 |
| Genre | : Science |
| ISBN | : 0309038405 |
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 354 |
| Release | : 2012-09-13 |
| Genre | : Science |
| ISBN | : 0309224187 |
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
| Author | : Jason X. -J. Yuan |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 1640 |
| Release | : 2011-03-24 |
| Genre | : Medical |
| ISBN | : 0387874291 |
Textbook of Pulmonary Vascular Diseases combines basic scientific knowledge on the pulmonary circulatory system at levels of the molecule, cell, tissue, and organ with clinical diagnosis and treatment of pulmonary vascular diseases. State-of-the-art techniques and their potential applications in research, diagnosis, and treatment of pulmonary vascular diseases are also covered.
| Author | : Jeanette Erdmann |
| Publisher | : Frontiers Media SA |
| Total Pages | : 135 |
| Release | : 2019-08-16 |
| Genre | : |
| ISBN | : 2889459829 |
Genome-wide association (GWA) studies, as a prototype of large-scale OMICs studies, have advanced our understanding of the genetic basis of many common diseases. With respect to coronary artery disease (CAD) and cardiovascular risk factors, like lipids, blood pressure or BMI, they have identified hundreds of chromosomal loci that modulate disease risk. Despite their scientific success, GWA studies have been criticized for having failed so far in delivering diagnostically or therapeutically relevant products. However, the ability to achieve such goals has been strengthened recently by further layers of OMICs-based data, including large-scale transcriptomics data, and better annotation of regulatory sequences and epigenetic changes in the genome (e.g. through the ENCODE project), as well as novel tools for bioinformatics analysis, allowing a systems medicine based approach to be applied. All in all, the last decade with its “gold rush of genomic discovery” led to the identification of known and novel pathways involved in the pathogenesis of cardiovascular diseases and point to novel treatment targets. This Research Topic has gathered contributions from scientists working in the field of cardiovascular genetics who have common interests in understanding the pathomechanisms linking genetic association findings and disease to finally translate the findings from large-scale genetic studies into novel treatment options.
| Author | : Joseph Jankovic |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 3032 |
| Release | : 2021-03-23 |
| Genre | : Medical |
| ISBN | : 0323642624 |
A practical, dynamic resource for practicing neurologists, clinicians and trainees, Bradley and Daroff's Neurology in Clinical Practice, Eighth Edition, offers a straightforward style, evidence-based information, and robust interactive content supplemented by treatment algorithms and images to keep you up to date with all that's current in this fast-changing field. This two-volume set is ideal for daily reference, featuring a unique organization by presenting symptom/sign and by specific disease entities—allowing you to access content in ways that mirror how you practice. More than 150 expert contributors, led by Drs. Joseph Jankovic, John C. Mazziotta, Scott L. Pomeroy, and Nancy J. Newman, provide up-to-date guidance that equips you to effectively diagnose and manage the full range of neurological disorders. - Covers all aspects of today's neurology in an easy-to-read, clinically relevant manner. - Allows for easy searches through an intuitive organization by both symptom and grouping of diseases. - Features new and expanded content on movement disorders, genetic and immunologic disorders, tropical neurology, neuro-ophthalmology and neuro-otology, palliative care, pediatric neurology, and new and emerging therapies. - Offers even more detailed videos that depict how neurological disorders manifest, including EEG and seizures, deep brain stimulation for PD and tremor, sleep disorders, movement disorders, ocular oscillations, EMG evaluation, cranial neuropathies, and disorders of upper and lower motor neurons, as well as other neurologic signs. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
| Author | : Stuart H. Orkin |
| Publisher | : Elsevier Health Sciences |
| Total Pages | : 3517 |
| Release | : 2014-11-14 |
| Genre | : Medical |
| ISBN | : 0323291775 |
Written by the leading names in pediatric oncology and hematology, Nathan and Oski's Hematology and Oncology of Infancy and Childhood offers you the essential tools you need to overcome the unique challenges and complexities of childhood cancers and hematologic disorders. Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children. - Form a definitive diagnosis and create the best treatment plans possible with comprehensive coverage of all pediatric cancers, including less-common tumors, as well as all hematologic disorders, including newly recognized ones. - Develop a thorough, understanding of the underlying science of diseases through summaries of relevant pathophysiology balanced with clear, practical clinical guidance. Nathan and Oski's is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. - Quickly and effortlessly access the key information you need with the help of a consistent organization from chapter to chapter and from volume to volume. - Stay at the forefront of your field thanks to new and revised chapters covering topics such as paroxysmal nocturnal hemoglobinuria, lysosomal storage diseases, childhood genetic predisposition to cancer, and oncology informatics. - Learn about the latest breakthroughs in diagnosis and management, making this the most complete guide in pediatric hematology and oncology. - Discover the latest in focused molecularly targeted therapies derived from the exponential growth of knowledge about basic biology and genetics underlying the field. - Rely on it anytime, anywhere! Access the full text, images, and more at Expert Consult.
